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Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

MedGen UID:
337988
Concept ID:
C1850184
Disease or Syndrome
Synonym: Osteogenesis imperfecta congenita microcephaly and cataracts
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009803
OMIM®: 259410
Orphanet: ORPHA2772

Definition

A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978. [from ORDO]

Clinical features

From HPO
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Platybasia
MedGen UID:
45959
Concept ID:
C0032209
Congenital Abnormality
A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Decreased calvarial ossification
MedGen UID:
322270
Concept ID:
C1833762
Finding
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
Bowing of limbs due to multiple fractures
MedGen UID:
376722
Concept ID:
C1850178
Finding
Curvature of the shafts of the long bones due to multiple fractures.
Multiple prenatal fractures
MedGen UID:
377844
Concept ID:
C1853171
Finding
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Follow this link to review classifications for Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome in Orphanet.

Professional guidelines

PubMed

Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
Fusini F, Alessandro M, Rava A, Kristijan Z, Felli L, Colò G
Musculoskelet Surg 2022 Jun;106(2):99-109. Epub 2021 Jul 15 doi: 10.1007/s12306-021-00720-z. PMID: 34268706
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article

Recent clinical studies

Etiology

Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Hopper RA
Curr Opin Otolaryngol Head Neck Surg 2012 Aug;20(4):298-303. doi: 10.1097/MOO.0b013e3283543a43. PMID: 22894998
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Carcassi U, Passiu G
Ann Ital Med Int 1991 Oct-Dec;6(4 Pt 2):483-90. PMID: 1840815

Diagnosis

Birgfeld C, Heike C
Clin Plast Surg 2019 Apr;46(2):207-221. doi: 10.1016/j.cps.2018.12.001. PMID: 30851752
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Smoker WR, Khanna G
Childs Nerv Syst 2008 Oct;24(10):1123-45. Epub 2008 May 7 doi: 10.1007/s00381-008-0601-0. PMID: 18461336
Carcassi U, Passiu G
Ann Ital Med Int 1991 Oct-Dec;6(4 Pt 2):483-90. PMID: 1840815

Therapy

Karakilic-Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, Wollnik B, Poyrazoglu S, Bas F, Uyguner ZO, Kayserili H, Darendeliler F
Am J Med Genet A 2022 Jul;188(7):2061-2070. Epub 2022 Apr 8 doi: 10.1002/ajmg.a.62742. PMID: 35393770
Abdel-Hamid MS, Elhossini RM, Otaify GA, Abdel-Ghafar SF, Aglan MS
Osteoporos Int 2022 Jul;33(7):1501-1510. Epub 2022 Feb 1 doi: 10.1007/s00198-022-06313-1. PMID: 35106624
Bhuyan F, de Jesus AA, Mitchell J, Leikina E, VanTries R, Herzog R, Onel KB, Oler A, Montealegre Sanchez GA, Johnson KA, Bichell L, Marrero B, De Castro LF, Huang Y, Calvo KR, Collins MT, Ganesan S, Chernomordik LV, Ferguson PJ, Goldbach-Mansky R
Arthritis Rheumatol 2021 Jun;73(6):1021-1032. Epub 2021 May 9 doi: 10.1002/art.41624. PMID: 33314777Free PMC Article
Papadopoulos I, Bountouvi E, Attilakos A, Gole E, Dinopoulos A, Peppa M, Nikolaidou P, Papadopoulou A
Eur J Pediatr 2019 Mar;178(3):323-329. Epub 2018 Nov 29 doi: 10.1007/s00431-018-3299-3. PMID: 30499050
Couturier A, Aumaître O, Gilain L, Jean B, Mom T, André M
Eur Ann Otorhinolaryngol Head Neck Dis 2017 Sep;134(4):229-235. Epub 2017 Mar 14 doi: 10.1016/j.anorl.2017.02.004. PMID: 28302454

Prognosis

Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Couturier A, Aumaître O, Gilain L, Jean B, Mom T, André M
Eur Ann Otorhinolaryngol Head Neck Dis 2017 Sep;134(4):229-235. Epub 2017 Mar 14 doi: 10.1016/j.anorl.2017.02.004. PMID: 28302454
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Hopper RA
Curr Opin Otolaryngol Head Neck Surg 2012 Aug;20(4):298-303. doi: 10.1097/MOO.0b013e3283543a43. PMID: 22894998
Plotkin H
BMC Pediatr 2004 Aug 31;4:16. doi: 10.1186/1471-2431-4-16. PMID: 15339338Free PMC Article

Clinical prediction guides

Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article
Lv F, Xu X, Song Y, Li L, Asan, Wang J, Yang H, Wang O, Jiang Y, Xia W, Xing X, Li M
Calcif Tissue Int 2018 Mar;102(3):296-309. Epub 2017 Nov 24 doi: 10.1007/s00223-017-0360-6. PMID: 29177700
Bookman LB, Melton KR, Pan BS, Bender PL, Chini BA, Greenberg JM, Saal HM, Taylor JA, Elluru RG
Otolaryngol Head Neck Surg 2012 Jan;146(1):8-18. Epub 2011 Sep 16 doi: 10.1177/0194599811421598. PMID: 21926259
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
Pediatr Radiol 1997 May;27(5):388-96. doi: 10.1007/s002470050154. PMID: 9133349

Recent systematic reviews

Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM
Acta Derm Venereol 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428. PMID: 32147746Free PMC Article
Brunetti G, D'Amato G, Chiarito M, Tullo A, Colaianni G, Colucci S, Grano M, Faienza MF
World J Pediatr 2019 Feb;15(1):4-11. Epub 2018 Oct 20 doi: 10.1007/s12519-018-0198-7. PMID: 30343446
Verlinden CR, van de Vijfeijken SE, Jansma EP, Becking AG, Swennen GR
Int J Oral Maxillofac Surg 2015 Jan;44(1):37-43. Epub 2014 Aug 20 doi: 10.1016/j.ijom.2014.07.009. PMID: 25148931
Kim SJ, Pierce W, Sabharwal S
Acta Orthop 2014 Apr;85(2):181-6. doi: 10.3109/17453674.2014.899856. PMID: 24650027Free PMC Article
Bookman LB, Melton KR, Pan BS, Bender PL, Chini BA, Greenberg JM, Saal HM, Taylor JA, Elluru RG
Otolaryngol Head Neck Surg 2012 Jan;146(1):8-18. Epub 2011 Sep 16 doi: 10.1177/0194599811421598. PMID: 21926259

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